Metabolic Study of Cockayne Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 25
- 试验地点
- 2
- 主要终点
- Rest energetic cost measured by indirect calorimetry compared to calculated Black equation
研究概览
简要总结
Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair. It is an autosomal recessive multisystemic disorder characterized by mental retardation, microcephaly, severe growth failure with lipoatrophia, sensorial impairment, cutaneous photosensitivity, dental decay, enophtalmios. The disease is progressive causing severe impairments but there's currently no therapeutics for the disease.
Growth failure, feeding difficulties and lipoatrophia are prognostic keys of CS but physiopathology is unknown.
According to preliminary assays, our goal is to test the hypothesis that cachexia is due to hypometabolism. We also want to test the potential link between this basal metabolism modification and mitochondrial dysfunction and somatotrope axis, and correlation between the basal metabolism degree and global severity of the disease.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 6 Months 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Cockayne patients:
- •Inclusion criteria :
- •Male and female with cockayne syndrome
- •Age>6 months
排除标准
- •Intercurrent diseases
- •Subject in period of exclusion
- •Pregnancy and breastfeeding
- •Control subjects :
- •Inclusion criteria :
- •Sister or brother of Cockayne patients
- •Age>6 months
- •Exclusion criteria:
- •Intercurrent diseases
- •Subject in periods of exclusion
- •Pregnancy and breastfeeding
结局指标
主要结局
Rest energetic cost measured by indirect calorimetry compared to calculated Black equation
时间窗: Day 0
次要结局
- Fat mass and lean mass measured by impedancemetry(Day 0)
- Hormonal axis evaluation and mitochondrial activity measured by level of hormones and lactates/pyruvates in blood(Day 0)
- Respiratory quotient measured by indirect calorimetry(Day 0)
- Rest energetic cost measured by indirect calorimetry compared to calculated theorical equations(Day 0)